- OHSU Service Code:
- 102-8840
- Lab Section:
- Molecular Diagnostic Center
- Synonyms:
- DMD/BMD; Dystrophin Gene DNA Deletion, Duplication Testing
- Test Schedule:
- Weekly. Result turnaround is 2 weeks. Stat testing is available.
- Specimen
Requirements:
- 6.0 mL whole blood in EDTA vacutainer tube. For requisition slips.
- Reference Range:
- Presence or absence of a dystrophin gene deletion, duplication or rearrangement.
- Interpretation:
- Professional interpretation is required. A previously characterized mutation detected in an at-risk female allows accurate genetic counseling. Such females are at a 50% risk for having affected offspring. Carrier females are also at risk for manifesting subtle symptoms (i.e., elevated cpk). The absence of a deletion or a duplication previously defined in an affected male relative indicates that the individual is not at increased risk for having affected offspring.
- Comments:
- A genetic consultation is strongly recommended prior to and after testing to identify at-risk females in the family. Please contact the laboratory at 503-494-5400 for more information or to request requisition forms.
